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Academic Journal

Whole exome germline sequencing in early-onset prostate cancer patients: Genomic findings and clinical outcomes.

  • Authors : Siegelmann-Danieli N; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Professional Medicine, Maccabi Healthcare Services, Tel Aviv, Israel.

Subjects: Exome* ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/genetics; Male

  • Source: The Prostate [Prostate] 2024 Jan; Vol. 84 (1), pp. 39-46. Date of Electronic Publication: 2023 Oct 16.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8101368 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Implementation of Exome Sequencing to Identify Rare Genetic Diseases.

  • Authors : Udupa P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Ghosh DK

Subjects: Exome*/Exome*/Exome*/genetics ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/methods; Humans

  • Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2024; Vol. 2719, pp. 79-98.Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029

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Academic Journal

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

Subjects: Exome*/Exome*/Exome*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis; Child

  • Source: European journal of pediatrics [Eur J Pediatr] 2024 Jan; Vol. 183 (1), pp. 345-355. Date of Electronic Publication: 2023 Oct 27.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.

  • Authors : Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Spillmann RC

Subjects: Exome*/Exome*/Exome*/genetics ; Computational Biology*; Humans

  • Source: Clinical genetics [Clin Genet] 2024 Jan; Vol. 105 (1), pp. 62-71. Date of Electronic Publication: 2023 Oct 18.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

ECOLE: Learning to call copy number variants on whole exome sequencing data.

  • Authors : Mandiracioglu B; Department of Computer and Communication Sciences, EPFL, Lausanne, Switzerland.; Ozden F

Subjects: DNA Copy Number Variations* ; Exome*/Exome*/Exome*/genetics; Humans

  • Source: Nature communications [Nat Commun] 2024 Jan 02; Vol. 15 (1), pp. 132. Date of Electronic Publication: 2024 Jan 02.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

"Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing.

  • Authors : McNamara RC; Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland. Electronic address: .; Zven S

Subjects: Exome*/Exome*/Exome*/genetics ; Genetic Testing*; Male

  • Source: Pediatric neurology [Pediatr Neurol] 2024 Mar; Vol. 152, pp. 1-3. Date of Electronic Publication: 2023 Dec 01.Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples.

  • Authors : Huang Y; West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, 610041, P.R. China.

Subjects: Exome* ; Polymorphism, Single Nucleotide*; Humans

  • Source: BMC genomics [BMC Genomics] 2024 Feb 05; Vol. 25 (1), pp. 142. Date of Electronic Publication: 2024 Feb 05.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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Academic Journal

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/diagnosis ; Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics ; Exome*

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101012. Date of Electronic Publication: 2023 Nov 01.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Protocol for detecting rare and common genetic associations in whole-exome sequencing studies using MAGICpipeline.

Subjects: Exome*/Exome*/Exome*/genetics ; Systems Biology*; Exome Sequencing

  • Source: STAR protocols [STAR Protoc] 2024 Mar 15; Vol. 5 (1), pp. 102806. Date of Electronic Publication: 2024 Jan 03.Publisher: Cell Press Country of Publication: United States NLM ID: 101769501 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

An integrative framework for clinical diagnosis and knowledge discovery from exome sequencing data.

  • Authors : Shojaei M; Cancer Systems Biology Laboratory, Graduate School of Informatics, Middle East Technical University, Ankara 06800 Turkey.; Mohammadvand N

Subjects: Knowledge Discovery* ; Exome*; Humans

  • Source: Computers in biology and medicine [Comput Biol Med] 2024 Feb; Vol. 169, pp. 107810. Date of Electronic Publication: 2023 Dec 13.Publisher: Elsevier Country of Publication: United States NLM ID: 1250250 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  292,771 results for ""Exome""